Associated Papers
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Zhu AY et al.
Ophthalmic Genetics, 2021
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C et al.
Journal of Human Genetics, 2020
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A et al.
European Journal of Human Genetics : Ejhg, 2015
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K et al.
American Journal of Human Genetics, 2011
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